Pyridoxine-Dependent Epilepsy (ALDH7A1)

Pyridoxine-dependent epilepsy is an autosomal recessive disease caused by pathogenic variants in the gene ALDH7A1. This disorder is characterized by intractable seizures beginning in infancy, or even before birth, which are not controlled with antiepileptic drugs. Affected individuals typically experience status epilepticus, muscle rigidity, convulsions, tonic-clonic seizures, and mild-to-severe intellectual disability or developmental delay. Life expectancy is dependent on the severity of the disease and compliance with treatment.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):